Bifid Nose Research Articles

Long-term Follow up of Nasal Reconstruction in Three Cases of Bifid Nose and a Trial of New Classification System

Long-term Follow up of Nasal Reconstruction in Three Cases of Bifid Nose and a Trial of New Classification System

Categorizing facial creases: A review.

Ensuring uniformity in the nomenclature standardization of facial creases is important to enable the scholarly community to follow and debate the advancements in research. This review highlights the prevailing disparity in the nomenclature that refers to the same facial crease by researchers and laypeople, and suggests uniform names for the facial creases based on available literature. The previous and current trends in facial crease classification are also discussed. The nomenclature of the facial creases considered for this review include the following: the nasolabial fold, corner of the mouth lines, upper and lower lip creases around the mouth region, the mandibular folds, the bifid nose, the transverse nasal line, the vertical glabellar line, chin crease, the mental crease, four type of creases around the eyes, forehead creases, and periauricular creases. A figure illustrating the above facial creases is included as reference. It is hoped that the proposed standardization of nomenclature would ensure a more scientific referencing of facial creases enabling more effective scientific interaction among the scholarly community as well as the laypeople interested in the research and application of facial creases.

Manitoba Oculotrichoanal Syndrome: First Case Report From India

Manitoba-oculo-tricho-anal (MOTA) syndrome is very rare syndrome characterized by aberrant hairline, eye anomalies (ocular hypertelorism, cryptophthalmos, and upper eyelid colobomas), bifid nose, omphalocele and anorectal anomalies. MOTA syndrome was first reported in 1992 in Oji-cree community from the Island Lake region of Manitoba, Canada. Till date very few cases of MOTA have been reported and none from India. We report first case of MOTA syndrome from India. A two month old male baby was brought with complaints of defect in right upper eye lid since birth. He was the second born child of a second degree consanguineously married couple at 37 weeks of gestation. On physical examination, the baby had right upper eyelid coloboma , ocular hypertelorism, bifid nose, small nasal ala and bilateral undescended testis. Investigations revealed high anorectal anomaly and right renal agenesis. Whole exome sequencing showed homozygous nonsense variation in exon 25 of the FREM1 gene that resulted in a stop codon. This case gains importance as it is the first case of MOTA being reported from India and bilateral undescended testis which was seen this case is an addition to the variable clinical spectrum of MOTA.

Changing trends in medical education

Frontonasal dysplasia is an unusual congenital condition with a wide phenotypic range. Because of this, only a small number of cases and their management have been reported in the literature. The ideal surgical procedures to correct mild cases of frontonasal dysplasia, and the time to perform them, are still controversial. The case of a 9-month-old girl with a mild form of this condition (a congenital bifid nose and a duplicated frenulum), and its surgical management, is presented. The surgery achieved an early improvement of the patient's appearance and she had no complications. In the future, it is probable that she will need secondary rhinoplasty to aid in the projection of the tip and refine the shape of the nose.

Surgical correction of bifid nose

ObjectivesEvaluation of the aesthetic outcome and functional aspect after surgical correction of bifid nose by combined Millard forked flap with external rhinoplasty BackgroundBifid nose is a rare congenital anomaly that results during facial development but the explicit mechanism is not clearly understood. Clinical findings are quite variable with a wide range of severity. Surgical correction still represents great challenge to facial plastic surgeons; extensive deformities in many cases, rarity of condition and paucity of publications are contributing factors. MethodsSurgical correction of six patients with bifid nose by a combined Millard forked flap with external rhinoplasty ResultsThe aesthetic and functional outcomes were acceptable for all patients and parents. There were no considerable postoperative complications. ConclusionsThis approach is highly effective for various grades of bifid nose. Early management is preferable to avoid psychological morbidity. Secondary rhinoplasty is usually needed for cosmetic refinement.

Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques.

Nasal Reconstruction of a Frontonasal Dysplasia Deformity Using Aesthetic Rhinoplasty Techniques.

Double Barrel Sign: A Pointer for Prenatal Detection of Bifid Nose

Congenital anomalies of the nose can range from subtle forms to overt deformities. Bifid nose is a relatively rare anomaly. Here, the authors report a case of bifid nose detected in utero and suggest the double barrel sign as a pointer for the prenatal detection of bifid nose.

Diagnostic imaging features of congenital nose and nasal cavity lesions.

A wide variety of congenital nasal lesions can present to clinical attention due to airway obstruction, the presence of a mass, and/or cosmetic deformity, including pyriform aperture stenosis, choanal atresia, nasopharyngeal atresia, arrhinia, congenital germline fusion cysts, cephaloceles, neuroglial heterotopia, nasolacrimal duct mucoceles, hamartomas, supernumerary nostril, and bifid nose. Computed tomography and magnetic resonance imaging, which are the main imaging modalities used to characterize these lesions, often serve complementary roles. Familiarity with embryology and anatomy is also essential for recognizing the diagnostic imaging findings related to congenital nasal lesions.

Prenatal Diagnosis of a Large Epignathus Teratoma Using Two-Dimensional and Three-Dimensional Ultrasound: Correlation with Pathological Findings

Epignathus teratomas are rare tumors that originate in the region of the palate or pharynx and are known as Rathke pouch. They may be associated with other malformations such as a cleft palate and bifid tongue or nose. The prenatal diagnosis can be established by two-dimensional ultrasonography showing a heterogeneous mass protruding through the mouth of the fetus. The three-dimensional ultrasonography in rendering mode permits better understanding of this anomaly by the parents, facilitating the counseling. The importance of prenatal diagnosis lies in the fact that this tumor may obstruct the airways, thus leading to death at birth due to respiratory insufficiency. We report a case of prenatal diagnosis of epignathus teratoma in the 30th week of pregnancy by two-dimensional ultrasonography. We focus on the importance of three-dimensional ultrasonography in rendering mode for demonstrating the spatial relationships of the tumor with the oral cavity and provide correlations between the ultrasound images and the anatomopathological findings.

Surgical correction of severe bifid nose

Craniofacial clefts cause severe facial disfigurement even in minor forms. The surgical reconstruction is imperative to restore function and appearance of facial structures. The presentation of Tessier number: 0 cleft patient may vary from minimal changes on median facial structures such lip, vermilion and nose, and nose to wide clefts dividing all median craniofacial structures. The variability of expression of the unusual orofacial clefts can be challenging for the surgeon, while reconstructing affected facial structures. In this report, we present the surgical management of the case with severe bifid nose. A 27-year-old male presented with congenital midfacial disfigurement with hypertelorism. The patient had a flat nasal dorsum and a deep groove between the two alar domes. The nose was short and bifid. The patient did not accept facial bipartition surgery. We performed de-epithelialization on the skin groove between the two alar domes. We repaired lower one-third part of the nose with native nasal tissues. We reconstructed upper two-third part of the nose with the osteocartilage frame harvested from the calvarium and the nasal septum. Two superiorly based-nasolabial flaps were designed with sufficient length to provide external cover of the osteocartilage frame. In case of the severe bifid nose, osteocartilaginous and soft tissue structures of the nose must be restored separately. Following reconstruction of the osteocartilaginous framework with nasal tissues or grafts, remaining nasal soft tissue, and local flaps can be used to cover the soft tissue.

Surgical Correction of Bifid Nose Due to Tessier’s No. 0 Cleft

Bifid nose is a rare congenital abnormality and its surgical correction is difficult. We represent a case of bifid nose with mild nasal deformity without cerebral or lip deformity. We performed rhinoplasty with a kind of the forked flap at one year of age and the appearance improved.

Potocki–shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability. While molecular investigations did not reveal mutations in any of the known genes, ALX4, ALX3, ALX1 and EFNB1, comparative genomic hybridization (array CGH) techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the ALX4 gene. Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. Although the patient reported herein manifests some overlapping features of FND and PPS, it is likely that the observed phenotype maybe due to a second unidentified mutation in the ALX4 gene. The phenotype will be discussed in view of the deleted region encompassing the ALX4 gene.

Bifid nose – A mild degree of frontonasal dysplasia. A case report

Frontonasal dysplasia is an unusual congenital condition with a wide phenotypic range. Because of this, only a small number of cases and their management have been reported in the literature. The ideal surgical procedures to correct mild cases of frontonasal dysplasia, and the time to perform them, are still controversial. The case of a 9-month-old girl with a mild form of this condition (a congenital bifid nose and a duplicated frenulum), and its surgical management, is presented. The surgery achieved an early improvement of the patient's appearance and she had no complications. In the future, it is probable that she will need secondary rhinoplasty to aid in the projection of the tip and refine the shape of the nose.

Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Congenital diaphragmatic hernia (CDH) is a common life-threatening birth defect. Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH. We have identified a female child with an isolated left-sided posterolateral CDH covered by a membranous sac who had no features suggestive of BNAR or MOTA syndromes. This child carries a maternally-inherited ~86 kb FREM1 deletion that affects the expression of FREM1's full-length transcripts and a paternally-inherited splice site mutation that causes activation of a cryptic splice site, leading to a shift in the reading frame and premature termination of all forms of the FREM1 protein. This suggests that recessive FREM1 mutations can cause isolated CDH in humans. Further evidence for the role of FREM1 in the development of CDH comes from an N-ethyl-N-nitrosourea -derived mouse strain, eyes2, which has a homozygous truncating mutation in Frem1. Frem1(eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias which are covered by a membranous sac. We confirmed that Frem1 is expressed in the anterior portion of the developing diaphragm and found that Frem1(eyes2) embryos had decreased levels of cell proliferation in their developing diaphragms when compared to wild-type embryos. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice.

Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics

Oculo-facio-cardio-dental (OFCD) syndrome is a rare syndrome characterized by ocular, facial, cardiac, and dental disorders. Only about 20 cases have been reported to date. The most prominent of the various features of this syndrome is canine radiculomegaly. Other features include a long and narrow face, a high nasal bridge, a broad and pointed nose, a bifid nose, ear deformity, cleft palate or submucous cleft palate, maxillary growth retardation, a large gonial angle, open apices, delayed eruption, persistent deciduous teeth, extreme overbite, and constricted maxilla. Orthodontic and prosthodontic treatment has been reported for several patients, but surgical-orthodontic treatment for OFCD has not been reported. An 18-year-old woman with skeletal Class III malocclusion and OFCD syndrome was treated with edgewise appliance therapy combined with orthognathic surgery. We applied a light force during the treatment so as not to induce ankylosis. At the end of the surgical and orthodontic treatments, functional occlusion and an improved facial profile were achieved. After the retention period, stomatognathic function was improved. The results of this treatment suggest that surgical-orthodontic treatment is an effective method for improving skeletal disharmony, facial profile, occlusion, and stomatognathic function in patients with OFCD.

A Female Infant Who Has a Pink, Smooth Soft-Tissue Mass

A female newborn has a pink, fresh, smooth, soft tissue mass (2.0 cm x 1.5 cm x 1.0 cm) on the midline of the hard palate (Fig 1).Serum alpha feto protein was 61,575 ng/mL.Congenital epulisEpulis is a benign tumor arising from the gingival mucosa. It is also known as congenital gingival granular cell tumor or Neumann’s tumor after its first description in 1871.This gingival granular cell tumor grows only in utero, especially during the third trimester of gestation. No known cause of epulis has been identified though it has been theorized that intrauterine estrogen stimulates its development because of its female predominance and spontaneous regression once maternal estrogen is withdrawn.Epulis is rare. Only 186 published cases were found in a literature review by Yavuzer in 2001. It is more common in females, with female-to-male ratio from 3:2 to 10:1. The tumor occurs more commonly from the maxilla than the mandible, with 2:1 ratio. It involves both maxilla and mandible in 10% of cases. Our case is unusual in that it appeared on the palate.The lesion is typically a pink, smooth-surfaced, soft tissue mass attached to the gingiva by a broad base or by a pedicle. Its size is from 1 mm to 9 cm in diameter. The infant with epulis may have feeding problems and respiratory difficulties due to airway obstruction. Polyhydramnios secondary to a blockage of the fetal oral cavity and inability to swallow amniotic fluid can occur.The diagnosis of epulis can be made based on clinical findings and it is confirmed histologically. On histological examination, epulis has sheets of round cells with granular cytoplasm and small nonmitotic nuclei, which are surrounded by a delicate stroma of collagen and covered by the squamous epithelium with no pseudoepitheliomatous hyperplasia. It tends to have a prominent plexiform network of capillaries. Epulis may be diagnosed by prenatal ultrasonography.Simple surgical resection of the tumor is required. Our case reveals that some cases can spontaneously regress over time without resection. Radical excision is discouraged because of the damage to underlying structures. There are case reports that reveal the conservative approach to the small asymptomatic lesion can succeed in spontaneous regression. No recurrence or malignant transformation has been reported.Epignathus, a congenital oropharyngeal teratoma is one of the differential diagnoses. It originates from the craniopharyngeal canal and attaches to the base of the skull in the posterior region of the nasopharynx. Epignathus is a malignant tumor and is difficult to distinguish from an epulis on clinical grounds alone. Few cases with an intracranial extension along the craniopharyngeal canal can be fatal. The infant with epignathus may also have other malformations, such as cleft palate, bifid tongue, bifid nose, pituitary duplication, and hypoplasia of the corpus callosum.Because there were no feeding or respiratory problems, management was conservative, and the infant was discharged. The epulis underwent spontaneous regression by the time the infant was 2 months old.JoDee M. Anderson, MD, MEd, Division of Neonatal Medicine, Oregon Health & Science University, Portland, ORSpecial acknowledgements are given to Dr Art Cooper, Department of Pediatric Surgery; Dr Jason Moche, Department of ENT; and Dr Cesar Ong, Department of Radiology, Harlem Hospital Center, New York, NY.

A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome

Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a bifid nose and coronal craniosynostosis. Craniofrontonasal syndrome is an X-linked disorder with an unusual pattern of inheritance because heterozygous females are more severely affected than hemizygous males. The craniofrontonasal syndrome-causing gene is EFNB1, localized in the border region of chromosome Xq12 and Xq13.1, encoding for protein ephrin-B1. Here we aim to investigate the underlying genetic defect of a young girl with craniofrontonasal syndrome. The patient underwent surgical correction of her craniofacial deformities. Genetic analysis was carried out by polymerase chain reaction. Products of exon 2 of the EFNB1 gene were sequenced as well as digested with BpmI enzyme. A novel de novo missense mutation 373G>A was identified within the EFNB1 gene, leading to the replacement of glutamic acid at amino acid position 125 with lysine. The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome.

Inferior encephalocele: transpalatal repair using paired costal bone grafts with a 14-year follow-up

A 2-year-old girl was referred to our hospital because of a pulsating mass in the roof of the mouth. On examination, a mass measuring 4 × 5 cm was found in the roof of the mouth and nose with a secondary palatal cleft. She had hypertelorism, a bifid nose, and a visible cleft over the dorsum and skin of the nose. In 1 stage, the mass was opened, reduced, and repositioned into the cranial cavity, and the defect was repaired with 2 parallel bridges of split costal bone grafts. The bone grafts were placed between 2 layers of soft tissue and the mucosa repaired over it. Palatal cleft was repaired with the Veau-Wardill-Kilner method 1 year later. Fourteen years later, the bifid nose was corrected using a flying-bird incision and a costal cartilage graft for the dorsum of the nose. On follow-up, minimal scar remained on the tip of the nose. There was neither obliteration nor reduction in the size of the bony defect. There were no operative complications, and the shape of the nose improved. The patient and her parents were highly satisfied with the result.

Repair of a Bifid Nose Combined with a Cleft of the Primary Palate in a 1‐Year‐Old Dog

To report surgical repair of a bifid nose combined with a cleft of the primary palate. Clinical report. A 1-year-old, male castrated Springer spaniel dog. With the dog in sternal recumbency, an extraoral (dorsal) approach to the nose was performed, and after surgical margins were outlined, a Y-shaped skin incision was made to remove redundant tissue and expose the bifid nasal cartilages. The cartilages were opposed and sutured together and the skin closed in 2 layers. The dog was repositioned in dorsal recumbency, and the 2 maxillary first incisor teeth were extracted. After tangential incision and undermining of the cleft defect, the mucosa was sutured in 1 layer. Healing was uneventful and there was an immediate return to normal function. At 2 weeks, 3 and 6 months function was excellent without further clinical signs. Bifid nose associated with a cleft of the primary palate can be surgically corrected.